Hasil Pencarian - Gu‐Hwan Kim

Perbaiki Hasil
  1. 1
    Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation

    Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation oleh Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo

    Diterbitkan 2015-08-01
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  2. 2
    Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency oleh Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo

    Diterbitkan 2016-03-01
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  3. 3
    Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)

    Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) oleh Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo

    Diterbitkan 2010-03-01
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  4. 4
    Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

    Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome oleh Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2023-06-01
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  5. 5
    p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

    p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia oleh Hye Won Park, Byung Ok Kwak, Gu-Hwan Kim, Han-Wook Yoo, Sochung Chung

    Diterbitkan 2013-03-01
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  6. 6
    Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

    Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review oleh Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

    Diterbitkan 2016-11-01
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  7. 7
    Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

    Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome oleh Ji Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu

    Diterbitkan 2013-06-01
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  8. 8
    Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

    Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk oleh Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee

    Diterbitkan 2016-11-01
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  9. 9
    Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

    Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia oleh Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Chung Sik Lee, Han Wook Yoo

    Diterbitkan 2011-03-01
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  10. 10
    A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of

    A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of oleh Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

    Diterbitkan 2014-09-01
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  11. 11
    Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

    Long-term clinical course of a patient with mucopolysaccharidosis type IIIB oleh Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee

    Diterbitkan 2016-11-01
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  12. 12
    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta oleh Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2022-03-01
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  13. 13
    Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

    Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center oleh Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2021-03-01
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  14. 14
    Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

    Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings oleh Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2022-02-01
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  15. 15
    Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and mutation

    Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and mutation oleh Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim

    Diterbitkan 2013-05-01
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  16. 16
    Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

    Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene oleh Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2024-02-01
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  17. 17
    Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

    Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia oleh Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2017-05-01
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  18. 18
    Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

    Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A oleh Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2016-09-01
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  19. 19
    A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

    A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing oleh Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2018-03-01
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  20. 20
    Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

    Chronic intermittent form of isovaleric aciduria in a 2-year-old boy oleh Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2013-08-01
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